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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
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Accession:DOID:0112305 term browser browse the term
Definition:A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. (DO)
Synonyms:exact_synonym: SMD With Bowed Forearms And Facial Dysmorphism;   spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
 primary_id: MESH:C535791
 alt_id: DOID:9006430;   MIM:607543
 xref: GARD:8719;   ORDO:168552


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19049
    Developmental Disease 14522
      bone development disease 2370
        osteochondrodysplasia 867
          spondylometaphyseal dysplasia 15
            spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 0
Path 2
Term Annotations click to browse term
  disease 19049
    disease of anatomical entity 18383
      musculoskeletal system disease 8477
        connective tissue disease 5950
          bone disease 4401
            bone development disease 2370
              osteochondrodysplasia 867
                spondylometaphyseal dysplasia 15
                  spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism 0
paths to the root